| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NTM_chr11_131365615_132341822 | 131671519 | GCCCTCAC others(34): Show |
G | intron_variant | MODIFIER | HG02145.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0081a0001c0001t0007g0059 | 2 | 86 | 0.0233 | -41 | c.83- others(60): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NTM_chr11_131365615_132341822 | 131873599 | CATATATA others(34): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG03130.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0003 | a0001c0001t0001g0002a0001c0001t0004g0072a0001c0002t0003g0041 | 3 | 86 | 0.0349 | -41 | c.83- others(58): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NTM_chr11_131365615_132341822 | 131873609 | TACCGTAT others(34): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG02735.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0037a0001c0001t0003g0056a0001c0001t0004g0043others(2): Show | 5 | 86 | 0.0581 | -41 | c.83- others(58): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NUDT1_chr7_2237226_2256145 | 2240589 | TTGTTACA others(34): Show |
T | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 414 | 0.0024 | -41 | c.-16 others(52): Show |
NUDT1 | ENSG00000106268.16 | transcript | ENST00000356714.6 | protein_coding | 1636 | chr7 | TogoVar | ||||||
| NUP62CL_chrX_107118427_107211433 | 107204883 | TTTTAAAT others(34): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111a0001c0001t0003g0112a0001c0001t0003g0113 | 3 | 280 | 0.0107 | -41 | c.-92 others(58): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | ||||||
| NWD2_chr4_37239743_37454463 | 37331076 | GTACAATA others(34): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02451.hp1 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0003a0005c0032others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0009others(2): Show | a0001c0001t0001g0053a0001c0001t0002g0033a0001c0001t0002g0034others(3): Show | 6 | 296 | 0.0203 | -41 | c.240 others(58): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| NWD2_chr4_37239743_37454463 | 37331212 | AGAATCAT others(34): Show |
A | intron_variant | MODIFIER | HG01891.hp2 NA18522.hp1 |
a0001a0002 | a0001c0010a0002c0003 | a0001c0010t0002a0002c0003t0009 | a0001c0010t0002g0177a0002c0003t0009g0171 | 2 | 296 | 0.0068 | -41 | c.240 others(58): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| NWD2_chr4_37239743_37454463 | 37331445 | GTACAATA others(34): Show |
G | intron_variant | MODIFIER | HG01891.hp2 NA18522.hp1 |
a0001a0002 | a0001c0010a0002c0003 | a0001c0010t0002a0002c0003t0009 | a0001c0010t0002g0177a0002c0003t0009g0171 | 2 | 296 | 0.0068 | -41 | c.240 others(58): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| NXNL1_chr19_17450425_17465926 | 17463917 | GAAGAAAA others(34): Show |
G | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02630.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0020a0001c0001t0002g0009a0001c0001t0002g0081others(3): Show | 8 | 408 | 0.0196 | -41 | c.-30 others(52): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2992 | chr19 | TogoVar | ||||||
| NXPH2_chr2_138664157_138785390 | 138766981 | TAATATTA others(34): Show |
T | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 350 | 0.0029 | -41 | c.51+ others(58): Show |
NXPH2 | ENSG00000144227.5 | transcript | ENST00000272641.4 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
| OCLN_chr5_69487790_69563104 | 69522506 | TAAAAATT others(34): Show |
T | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 290 | 0.0035 | -41 | c.891 others(58): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | chr5 | TogoVar | ||||||
| ODAD3_chr19_11415605_11440121 | 11434252 | TGGCTCAC others(34): Show |
T | intron_variant | MODIFIER | HG02602.hp1 HG03831.hp1 NA19080.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0026a0004c0004t0001g0027a0004c0004t0001g0028 | 3 | 398 | 0.0075 | -41 | c.244 others(56): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
| OPCML_chr11_132409981_133537501 | 133140999 | ACGACGAC others(34): Show |
A | intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 68 | 0.0147 | -41 | c.62- others(60): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| OPHN1_chrX_68037344_68438495 | 68314007 | ATTTTTTT others(34): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 155 | 0.0065 | -41 | c.155 others(60): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
| OPN3_chr1_241588124_241645369 | 241639739 | GAGCGGGG others(34): Show |
G | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 410 | 0.0024 | -41 | c.373 others(56): Show |
OPN3 | ENSG00000054277.14 | transcript | ENST00000366554.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| OR2AG1_chr11_6778020_6796558 | 6779194 | ATATATAT others(34): Show |
A | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02109.hp1 NA19007.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026a0001c0001t0044 | a0001c0001t0001g0003a0001c0001t0026g0001a0001c0001t0044g0003 | 5 | 468 | 0.0107 | -41 | c.-42 others(52): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3825 | chr11 | TogoVar | ||||||
| OR4F5_chr1_60419_76585 | 66231 | TAATATAT others(34): Show |
T | intron_variant | MODIFIER | HG02148.hp1 HG02738.hp1 HG03017.hp2 others(7): Show |
a0001 | a0001c0006 | a0001c0006t0002a0001c0006t0006 | a0001c0006t0002g0003a0001c0006t0006g0003 | 10 | 215 | 0.0465 | -41 | c.9+6 others(52): Show |
OR4F5 | ENSG00000186092.7 | transcript | ENST00000641515.2 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
| OR4P4_chr11_55630113_55645309 | 55632951 | AGCCGTAT others(34): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 224 | 0.0045 | -41 | c.-22 others(52): Show |
OR4P4 | ENSG00000181927.4 | transcript | ENST00000641760.1 | protein_coding | 2161 | chr11 | TogoVar | ||||||
| OR4P4_chr11_55630113_55645309 | 55633073 | CCATGAAT others(34): Show |
C | upstream_gene_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 224 | 0.0045 | -41 | c.-21 others(52): Show |
OR4P4 | ENSG00000181927.4 | transcript | ENST00000641760.1 | protein_coding | 2039 | chr11 | TogoVar | ||||||
| OR5T1_chr11_56269154_56281819 | 56278966 | CAGTCATA others(34): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp1 HG02965.hp1 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0009 | 3 | 379 | 0.0079 | -41 | c.*23 others(52): Show |
OR5T1 | ENSG00000181698.5 | transcript | ENST00000641665.1 | protein_coding | 2148 | chr11 | TogoVar | ||||||
| OR9Q1_chr11_58018881_58186616 | 58037677 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 324 | 0.0031 | -41 | c.-93 others(60): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| OSTF1_chr9_75083514_75152265 | 75128373 | TATATATA others(34): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0147 | 1 | 366 | 0.0027 | -41 | c.132 others(56): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| OTOF_chr2_26452203_26483124 | 26475738 | TGTGACCC others(34): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0187 | 1 | 330 | 0.0030 | -41 | c.750 others(56): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 7/28 | chr2 | TogoVar | ||||||
| OTOGL_chr12_80094537_80385880 | 80123497 | TGTGCATG others(34): Show |
T | intron_variant | MODIFIER | HG02280.hp1 NA18522.hp2 |
a0002a0003 | a0002c0003a0003c0008 | a0002c0003t0002a0003c0008t0005 | a0002c0003t0002g0078a0003c0008t0005g0077 | 2 | 168 | 0.0119 | -41 | c.-20 others(60): Show |
OTOGL | ENSG00000165899.12 | transcript | ENST00000547103.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| OTOG_chr11_17542259_17651044 | 17613170 | TTTTCTTT others(34): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG04115.hp1 NA20752.hp2 |
a0006a0111 | a0006c0029a0006c0151a0111c0091 | a0006c0029t0001a0006c0151t0001a0111c0091t0001 | a0006c0029t0001g0211a0006c0151t0001g0263a0111c0091t0001g0084 | 3 | 268 | 0.0112 | -41 | c.643 others(58): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 38/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| OXSR1_chr3_38160537_38260484 | 38258974 | TTTAATCT others(34): Show |
T | downstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 248 | 0.0040 | -41 | c.*60 others(52): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 3491 | chr3 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3699876 | AGGAAGGA others(34): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG03239.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0113a0002c0002t0002g0020 | 2 | 362 | 0.0055 | -41 | c.-39 others(52): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3722 | chr17 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3699886 | GAAGGAAG others(34): Show |
G | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0344 | 1 | 362 | 0.0028 | -41 | c.-39 others(52): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3732 | chr17 | TogoVar | ||||||
| P2RY8_chrX_1457581_1542185 | 1466696 | CAGGGCCT others(34): Show |
C | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0074 | 1 | 114 | 0.0088 | -41 | c.-24 others(56): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
| P3H2_chr3_189951728_190125897 | 189966083 | GAAGAAAG others(34): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02027.hp2 HG02074.hp1 others(12): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0009others(4): Show | a0001c0001t0002g0026a0001c0001t0002g0292a0001c0002t0002g0049others(12): Show | 15 | 304 | 0.0493 | -41 | c.189 others(60): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
| P4HA1_chr10_73002217_73101866 | 73037531 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG01258.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0161 | 2 | 234 | 0.0086 | -41 | c.114 others(60): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | ||||||
| PACSIN2_chr22_42864773_43020149 | 42981451 | CCGGCCAG others(34): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(177): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(17): Show | a0001c0001t0001g0029a0001c0001t0001g0042a0001c0001t0001g0043others(177): Show | 180 | 294 | 0.6122 | -41 | c.-78 others(60): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | ||||||
| PAFAH1B2_chr11_117139287_117176045 | 117172376 | ATATATAT others(34): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp2 HG03195.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0019 | a0001c0001t0009g0004a0001c0001t0019g0015 | 3 | 432 | 0.0069 | -41 | c.*46 others(52): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1332 | chr11 | TogoVar | ||||||
| PAFAH1B2_chr11_117139287_117176045 | 117172378 | ATATATAT others(34): Show |
A | downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0134 | 1 | 432 | 0.0023 | -41 | c.*46 others(52): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1334 | chr11 | TogoVar | ||||||
| PAFAH1B2_chr11_117139287_117176045 | 117172380 | ATATATAT others(34): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 432 | 0.0023 | -41 | c.*46 others(52): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1336 | chr11 | TogoVar | ||||||
| PAK5_chr20_9532370_9844076 | 9641405 | TGATTGGT others(34): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0129 | 1 | 208 | 0.0048 | -41 | c.204 others(58): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 3/9 | chr20 | TogoVar | ||||||
| PALLD_chr4_168492052_168933441 | 168701019 | AATTACAG others(34): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0051a0001c0001t0003g0067others(5): Show | 8 | 156 | 0.0513 | -41 | c.150 others(60): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PAM_chr5_102750305_103034716 | 102752532 | CCAATCAG others(34): Show |
C | upstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0042 | 1 | 188 | 0.0053 | -41 | c.-31 others(52): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 2772 | chr5 | TogoVar | ||||||
| PAPPA_chr9_116148791_116407321 | 116289145 | TATATATA others(34): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02559.hp1 |
a0001a0002 | a0001c0017a0002c0004a0002c0018 | a0001c0017t0049a0002c0004t0016a0002c0018t0002 | a0001c0017t0049g0231a0002c0004t0016g0167a0002c0018t0002g0233 | 3 | 234 | 0.0128 | -41 | c.295 others(62): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PAQR5_chr15_69293912_69412780 | 69300626 | TTTCTTTC others(34): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG02280.hp1 HG03225.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0062a0001c0001t0001g0063others(6): Show | 9 | 284 | 0.0317 | -41 | c.-27 others(60): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PARL_chr3_183824271_183889880 | 183882221 | AAATATAT others(34): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02976.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047a0002c0002t0001g0048 | 2 | 358 | 0.0056 | -41 | c.125 others(58): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
| PARP1_chr1_226355691_226413093 | 226410456 | TGGGAGGG others(34): Show |
T | upstream_gene_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0065 | 1 | 358 | 0.0028 | -41 | c.-25 others(52): Show |
PARP1 | ENSG00000143799.14 | transcript | ENST00000366794.10 | protein_coding | 2364 | chr1 | TogoVar | ||||||
| PARVB_chr22_44019302_44177939 | 44112699 | CTAACTAA others(34): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp2 others(74): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0023a0001c0001t0001g0050a0001c0001t0001g0167others(74): Show | 77 | 332 | 0.2319 | -41 | c.274 others(58): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PARVB_chr22_44019302_44177939 | 44113421 | TACTAAAT others(34): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0198a0001c0001t0004g0226 | 2 | 332 | 0.0060 | -41 | c.274 others(58): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PARVB_chr22_44019302_44177939 | 44155004 | GGTGTGTG others(34): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp1 others(20): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(18): Show | a0001c0001t0001g0119a0001c0001t0004g0153a0001c0001t0006g0187others(20): Show | 23 | 332 | 0.0693 | -41 | c.844 others(58): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PARVG_chr22_44175925_44213469 | 44176007 | GTGTGTTT others(34): Show |
G | upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0059 | 1 | 422 | 0.0024 | -41 | c.-53 others(52): Show |
PARVG | ENSG00000138964.17 | transcript | ENST00000444313.8 | protein_coding | 4917 | chr22 | TogoVar | ||||||
| PASK_chr2_241101099_241154472 | 241108942 | GCCGTAAA others(34): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG02145.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0015 | a0001c0002t0001g0189a0001c0002t0015g0042 | 2 | 376 | 0.0053 | -41 | c.353 others(58): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 15/17 | chr2 | TogoVar | ||||||
| PASK_chr2_241101099_241154472 | 241109024 | ACCGTAAA others(34): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03195.hp1 |
a0004 | a0004c0026 | a0004c0026t0008 | a0004c0026t0008g0123a0004c0026t0008g0124 | 2 | 376 | 0.0053 | -41 | c.353 others(58): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 15/17 | chr2 | TogoVar | ||||||
| PAWR_chr12_79579879_79695964 | 79613947 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0225 | 1 | 256 | 0.0039 | -41 | c.649 others(56): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
| PAWR_chr12_79579879_79695964 | 79613951 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG03490.hp1 HG03491.hp1 others(2): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0001 | a0001c0003t0003g0100a0002c0002t0001g0174a0002c0002t0001g0192others(2): Show | 5 | 256 | 0.0195 | -41 | c.649 others(56): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar |